Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression von Yang, Chaozhe, Harafuji, Naoe, O’Connor, Amber K., Kesterson, Robert A., Watts, Jacob A., Majmundar, Amar J., Braun, Daniela A., Lek, Monkol, Laricchia, Kristen M., Fathy, Hanan M., Mane, Shrikant, Shril, Shirlee, Hildebrandt, Friedhelm, Guay-Woodford, Lisa M.

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Identifying distinct phenotypes of patients with juvenile systemic lupus erythematosus: results from a cluster analysis by the Egyptian college of rheumatology (ECR) study group von Hammam, Nevin, Gheita, Tamer A, Bakhiet, Ali, Mahmoud, Mohamed Bakry, Owaidy, Rasha El, Nabi, Hend Abdel, Elsaman, Ahmed M, Khalifa, Iman, ElBaky, Abeer M Nour ElDin Abd, Ismail, Faten, Hassan, Eman, El Shereef, Rawhya R, El-Gazzar, Iman I, Moshrif, Abdelhfeez, Khalil, Noha M, Amer, Marwa A, Fathy, Hanan M, Salam, Nancy Abdel, Elazeem, Mervat I Abd, Hammam, Osman, Fathi, Hanan M, Tharwat, Samar

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Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract von Wu, Chen-Han Wilfred, Lim, Tze Y., Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca, Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Nakayama, Makiko, van der Ven, Amelie T., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Stajic, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Turudic, Daniel, Al Saffar, Muna, Awad, Hazem S., Eid, Loai A., Ramanathan, Aravind, Senguttuvan, Prabha, Mane, Shrikant M., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Hilger, Alina C., Tasic, Velibor, Shril, Shirlee, Sanna-Cherchi, Simone, Hildebrandt, Friedhelm

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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome von Sadowski, Carolin E, Lovric, Svjetlana, Ashraf, Shazia, Pabst, Werner L, Gee, Heon Yung, Kohl, Stefan, Engelmann, Susanne, Vega-Warner, Virginia, Fang, Humphrey, Halbritter, Jan, Somers, Michael J, Tan, Weizhen, Shril, Shirlee, Fessi, Inès, Lifton, Richard P, Bockenhauer, Detlef, El-Desoky, Sherif, Kari, Jameela A, Zenker, Martin, Kemper, Markus J, Mueller, Dominik, Fathy, Hanan M, Soliman, Neveen A, Hildebrandt, Friedhelm

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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract von van der Ven, Amelie T, Connaughton, Dervla M, Ityel, Hadas, Mann, Nina, Nakayama, Makiko, Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Schulz, Julian, Braun, Daniela A, Schmidt, Johanna Magdalena, Schapiro, David, Schneider, Ronen, Warejko, Jillian K, Daga, Ankana, Majmundar, Amar J, Tan, Weizhen, Jobst-Schwan, Tilman, Hermle, Tobias, Widmeier, Eugen, Ashraf, Shazia, Amar, Ali, Hoogstraaten, Charlotte A, Hugo, Hannah, Kitzler, Thomas M, Kause, Franziska, Kolvenbach, Caroline M, Dai, Rufeng, Spaneas, Leslie, Amann, Kassaundra, Stein, Deborah R, Baum, Michelle A, Somers, Michael J G, Rodig, Nancy M, Ferguson, Michael A, Traum, Avram Z, Daouk, Ghaleb H, Bogdanović, Radovan, Stajić, Natasa, Soliman, Neveen A, Kari, Jameela A, El Desoky, Sherif, Fathy, Hanan M, Milosevic, Danko, Al-Saffar, Muna, Awad, Hazem S, Eid, Loai A, Selvin, Aravind, Senguttuvan, Prabha, Sanna-Cherchi, Simone, Rehm, Heidi L, MacArthur, Daniel G, Lek, Monkol, Laricchia, Kristen M, Wilson, Michael W, Mane, Shrikant M, Lifton, Richard P, Lee, Richard S, Bauer, Stuart B, Lu, Weining, Reutter, Heiko M, Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm

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Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis von Daga, Ankana, Majmundar, Amar J., Braun, Daniela A., Gee, Heon Yung, Lawson, Jennifer A., Shril, Shirlee, Jobst-Schwan, Tilman, Vivante, Asaf, Schapiro, David, Tan, Weizhen, Warejko, Jillian K., Widmeier, Eugen, Nelson, Caleb P., Fathy, Hanan M., Gucev, Zoran, Soliman, Neveen A., Hashmi, Seema, Halbritter, Jan, Halty, Margarita, Kari, Jameela A., El-Desoky, Sherif, Ferguson, Michael A., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daouk, Ghaleb H., Rodig, Nancy M., Katz, Avi, Hanna, Christian, Schwaderer, Andrew L., Sayer, John A., Wassner, Ari J., Mane, Shrikant, Lifton, Richard P., Milosevic, Danko, Tasic, Velibor, Baum, Michelle A., Hildebrandt, Friedhelm

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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome von Braun, Daniela A, Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Eddy, Kaitlyn, Kitzler, Thomas M, Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A, Lawson, Jennifer A, Gee, Heon Yung, Warejko, Jillian K, Hermle, Tobias, Majmundar, Amar J, Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M, Gale, Daniel P, Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A, Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S, Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P, Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K, Hildebrandt, Friedhelm

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Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome von Mao, Youying, Schneider, Ronen, van der Ven, Peter F.M., Assent, Marvin, Lohanadan, Keerthika, Klämbt, Verena, Buerger, Florian, Kitzler, Thomas M., Deutsch, Konstantin, Nakayama, Makiko, Majmundar, Amar J., Mann, Nina, Hermle, Tobias, Onuchic-Whitford, Ana C., Zhou, Wei, Margam, Nandini Nagarajan, Duncan, Roy, Marquez, Jonathan, Khokha, Mustafa, Fathy, Hanan M., Kari, Jameela A., El Desoky, Sherif, Eid, Loai A., Awad, Hazem Subhi, Al-Saffar, Muna, Mane, Shrikant, Lifton, Richard P., Fürst, Dieter O., Shril, Shirlee, Hildebrandt, Friedhelm

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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling von Gee, Heon Yung, Saisawat, Pawaree, Ashraf, Shazia, Hurd, Toby W, Vega-Warner, Virginia, Fang, Humphrey, Beck, Bodo B, Gribouval, Olivier, Zhou, Weibin, Diaz, Katrina A, Natarajan, Sivakumar, Wiggins, Roger C, Lovric, Svjetlana, Chernin, Gil, Schoeb, Dominik S, Ovunc, Bugsu, Frishberg, Yaacov, Soliman, Neveen A, Fathy, Hanan M, Goebel, Heike, Hoefele, Julia, Weber, Lutz T, Innis, Jeffrey W, Faul, Christian, Han, Zhe, Washburn, Joseph, Antignac, Corinne, Levy, Shawn, Otto, Edgar A, Hildebrandt, Friedhelm

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Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis von Jobst-Schwan, Tilman, Klämbt, Verena, Tarsio, Maureen, Heneghan, John F., Majmundar, Amar J., Shril, Shirlee, Buerger, Florian, Ottlewski, Isabel, Shmukler, Boris E., Topaloglu, Rezan, Hashmi, Seema, Hafeez, Farkhanda, Emma, Francesco, Greco, Marcella, Laube, Guido F., Fathy, Hanan M., Pohl, Martin, Gellermann, Jutta, Milosevic, Danko, Baum, Michelle A., Mane, Shrikant, Lifton, Richard P., Kane, Patricia M., Alper, Seth L., Hildebrandt, Friedhelm

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Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life von Elshafey, Samar Atef, Thabet, Mohamed Alaa Eldin Hassan, Abo Elwafa, Reham Abdel Haleem, Schneider, Ronen, Shril, Shirlee, Buerger, Florian, Hildebrandt, Friedhelm, Fathy, Hanan M

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Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria von OVUNC, Bugsu, OTTO, Edgar A, YILMAZ, Engin, HILDEBRANDT, Friedhelm, VEGA-WARNER, Virginia, SAISAWAT, Pawaree, ASHRAF, Shazia, RAMASWAMI, Gokul, FATHY, Hanan M, SCHOEB, Dominik, CHERNIN, Gil, LYONS, Robert H

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Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT von Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Mann, Nina, Connaughton, Dervla M., Wu, Chen-Han Wilfred, Schneider, Sophia, Schierbaum, Luca, Kause, Franziska, Kolvenbach, Caroline M., Nakayama, Makiko, Dai, Rufeng, Ottlewski, Isabel, Schneider, Ronen, Deutsch, Konstantin, Buerger, Florian, Klämbt, Verena, Mao, Youying, Onuchic-Whitford, Ana C., Nicolas-Frank, Camille, Yousef, Kirollos, Pantel, Dalia, Lai, Ethan W., Salmanullah, Daanya, Majmundar, Amar J., Bauer, Stuart B., Rodig, Nancy M., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daga, Ankana, Baum, Michelle A., Daouk, Ghaleb H., Tasic, Velibor, Awad, Hazem S., Eid, Loai A., El Desoky, Sherif, Shalaby, Mohammed, Kari, Jameela A., Fathy, Hanan M., Soliman, Neveen A., Mane, Shrikant M., Shril, Shirlee, Ferguson, Michael A., Hildebrandt, Friedhelm

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Systemic lupus erythematosus children in Egypt: Homeland spectrum amid the global situation von Eesa, Nahla N, Abdel Nabi, Hend, Owaidy, Rasha El, Khalifa, Iman, Radwan, Ahmed R, NourEl-Din, Abeer M, Amer, Marwa A, ElShereef, Rawhya R, Hassan, Eman, Ismail, Faten, El-Gazzar, Iman I, Khalil, Noha M, Moshrif, Abdel Hafeez, Abualfadl, Esam, Tharwat, Samar, Fathi, Hanan M, Abd Elazeem, Mervat I, El-Shebini, Emad, Samy, Nermeen, Noshy, Nermeen, El-Bahnasawy, Amany S, Abdalla, Ahmed M, Abousehly, Osama S, Mohamed, Eman F, Nasef, Samah I, Elsaman, Ahmed M, ElKhalifa, Marwa, Salem, Mohamed N, Abaza, Nouran M, Fathy, Hanan M, Abdel Salam, Nancy, El-Saadany, Hanan M, El-Najjar, Amany R, El-Hammady, Dina H, Hammam, Nevin, Mohammed, Reem HA, Gheita, Tamer A

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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis von Majmundar, Amar J., Widmeier, Eugen, Heneghan, John F., Daga, Ankana, Wu, Chen-Han Wilfred, Buerger, Florian, Hugo, Hannah, Ullah, Ihsan, Amar, Ali, Ottlewski, Isabel, Braun, Daniela A., Jobst-Schwan, Tilman, Lawson, Jennifer A., Zahoor, Muhammad Yasir, Rodig, Nancy M., Tasic, Velibor, Nelson, Caleb P., Khaliq, Shagufta, Schönauer, Ria, Halbritter, Jan, Sayer, John A., Fathy, Hanan M., Baum, Michelle A., Shril, Shirlee, Mane, Shrikant, Alper, Seth L., Hildebrandt, Friedhelm

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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies von Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo, Lewis, Richard A., Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype von Perrault, Isabelle, Halbritter, Jan, Porath, Jonathan D, Gérard, Xavier, Braun, Daniela A, Gee, Heon Yung, Fathy, Hanan M, Saunier, Sophie, Cormier-Daire, Valérie, Thomas, Sophie, Attié-Bitach, Tania, Boddaert, Nathalie, Taschner, Michael, Schueler, Markus, Lorentzen, Esben, Lifton, Richard P, Lawson, Jennifer A, Garfa-Traore, Meriem, Otto, Edgar A, Bastin, Philippe, Caillaud, Catherine, Kaplan, Josseline, Rozet, Jean-Michel, Hildebrandt, Friedhelm

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Neurophysiological evaluation of juvenile systemic lupus erythematosus von Thabet, Alaa M., Elnwam, Sara A., Mekky, Jaidaa F., Abdelghany, Hayam M., Fathy, Hanan M.

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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome von Schneider, Ronen, Shril, Shirlee, Buerger, Florian, Deutsch, Konstantin, Yousef, Kirollos, Frank, Camille N., Onuchic-Whitford, Ana C., Kitzler, Thomas M., Mao, Youying, Klämbt, Verena, Zahoor, Muhammad Y., Lemberg, Katharina, Majmundar, Amar J., Mansour, Bshara, Saida, Ken, Seltzsam, Steve, Kolvenbach, Caroline M., Merz, Lea Maria, Mertens, Nils D., Hermle, Tobias, Mann, Nina, Pantel, Dalia, Halawi, Abdul A., Bao, Aaron, Schierbaum, Luca, Schneider, Sophia, Salmanullah, Daanya, Ben-Dov, Iddo Z., Sagiv, Itamar, Eid, Loai A., Awad, Hazem Subhi H., Al Saffar, Muna, Soliman, Neveen A., Nabhan, Marwa M., Kari, Jameela A., El Desoky, Sherif, Shalaby, Mohamed A., Ooda, Said, Fathy, Hanan M., Mane, Shrikant, Lifton, Richard P., Somers, Michael J.G., Hildebrandt, Friedhelm

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Tumor necrosis factor-α -308 A/G gene polymorphism in children with juvenile idiopathic arthritis: relation to disease activity, damage, and functional status von El Gazzar, Iman I., Fathy, Hanan M., Gheita, Tamer A., Nour El-Din, Abeer M., Rasheed, Enas Abdel, Bassyouni, Rasha H., Kenawy, Sanaa A.

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